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REVEAL-CP: Selective Screening of Pediatric Patients for Aromatic L-Amino Acid Decarboxylase Deficiency with a Guthrie Card and Structural Modeling of One Index Case.
Genet Test Mol Biomarkers
January 2025
PTC Therapeutics Germany GmbH, Frankfurt, Germany.
The main objective of this prospective, multicenter study (REVEAL-CP) was to test children with cerebral palsy-like signs and symptoms for raised 3--methyldopa (3-OMD) blood levels, a biomarker for aromatic L-amino acid decarboxylase deficiency (AADCd). A secondary objective was to characterize the molecular basis for the defective aromatic L-amino acid decarboxylase (AADC) gene product. Patients were identified in pediatric secondary and tertiary care hospitals through database searches and personal communication.
View Article and Find Full Text PDFPurpose: The light adjustable lens (LAL) (RxSight, Aliso Viejo, CA) is a premium intraocular lens that allows for correction of residual refractive error and astigmatism following implantation. Herein, we describe the surgical approach and evaluate the visual outcomes of patients following scleral fixation of the LAL.
Methods: Retrospective, single-surgeon surgical case series of 3 patients (3 eyes) with intraocular lens complications, who underwent combined pars plana vitrectomy and sutureless needle assisted intrascleral haptic fixation of the LAL between April 2022, to August 2023.
Vitreous cavity lavage with a bended-needle system for postoperative vitreous cavity hemorrhage.
Retina
January 2025
Department of Ophthalmology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China.
Purpose: To present a novel bended-needle drainage system in vitreous cavity lavage (VCL) for postoperative vitreous cavity hemorrhage (POVCH).
Methods: This retrospective case series include all patients with POVCH who received VCL with the bended-needle drainage system at ophthalmology department of Peking Union Medical College Hospital from January 2022 to May 2024. Patients adopted a supine position that allows preparation and draping.
Rare Indocyanine-Induced Anaphylactic Shock During Deep Inferior Epigastric Artery Perforator Breast Reconstruction: A Case Report.
Ann Plast Surg
February 2025
From the Department of Plastic and Reconstructive Surgery, Ewha Womans University College of Medicine, Mokdong Hospital, Seoul, Republic of Korea.
Indocyanine green (ICG) is a water-soluble green substance that is detectable through infrared cameras and emits greenish light. Approved for medical use in the 1950s, ICG has gained prominence as a real-time visualization tool. Widely recognized as a generally safe substance, ICG is applied in diverse fields.
View Article and Find Full Text PDFImmune thrombocytopenia possibly triggered by multiple tick bites.
Rev Inst Med Trop Sao Paulo
January 2025
Hospital Militar Central, Servicio de Infectología, Bogotá, Colombia.
Immune thrombocytopenia (ITP) is an autoimmune hematological condition characterized by a markedly isolated decrease in platelets without any apparent associated clinical conditions, resulting in bleeding and bruising of the skin, mucous membranes, and major organs. It is often triggered by preceding illness or several immune stimulants such as immunizations, infections, allergic reactions, among others. While uncommon, arthropod bites can trigger acute ITP.
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